| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.80153055A>G | CA16043027 | FAH | c.1A>G (p.Met1Val) n.76A>G n.46A>G n.83A>G n.262A>G n.81A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.80153055A>C | CA393615343 | FAH | c.1A>C (p.Met1Leu) n.76A>C n.46A>C n.83A>C n.262A>C n.81A>C | ClinVar dbSNP |